Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.710 Biomarker GENOMICS_ENGLAND

Entrez Id: 9227
Gene Symbol: LRAT
LRAT
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.710 GermlineCausalMutation ORPHANET Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. 18055821

2007

Entrez Id: 9227
Gene Symbol: LRAT
LRAT
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.710 Biomarker CTD_human

Entrez Id: 9227
Gene Symbol: LRAT
LRAT
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.710 GeneticVariation BEFREE The c.541-15T>G mutation in LRAT results in aberrant splicing and is therefore predicted to be causal for the early onset retinitis pigmentosa in this family. 29973277

2018

Entrez Id: 9227
Gene Symbol: LRAT
LRAT
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.710 GeneticVariation CLINVAR